This blog is dedicated to my daughter Kayla, who was diagnosed at birth with congenital myotonic dystrophy. She spent 105 days from birth in the ICU, her first 9 months on a ventilator and using a feeding tube. The doctors did not expect her to live to see her first birthday but she is still here and keeps defying the odds, thanks to lots of love and care from her family, friends, and amazing therapists, teachers, nurses and doctors. This is her story...

Sunday, July 5, 2009

As many of you know, I manage the Myotonic Dystrophy Foundation, a patient advocacy group focused on education, advocacy and research for myotonic dystrophy. I was recently invited to speak at a medical conference in Holland, in a small town called Naarden not far from Amsterdam. Just before I left for my trip I received a call from my brother saying that he had just returned from a romantic trip to Italy with his wife Dawn. I had to laugh because there is a famous poem by Emily Perl Kingsley that talks about the experience of having a child with a disability and in the poem it talks about how your lifelong trip to Italy gets re-routed to Holland. This poem was passed on to me by another mom who has a child with congenital myotonic dystrophy when I was in the hospital with Kayla. I remember the impact this poem had on me around Kayla's birth and still has on me to this day. When people ask me what it's like to have a child with a disability, I usually just send them a copy of this poem. I wanted to share it with you.

"Welcome to Holland” by Emily Perl Kingsley c1987

When you're going to have a baby, it's like planning a fabulous vacation trip to Italy. You buy a bunch of guide books and make your wonderful plans... the Coliseum, the Sistine Chapel, Gondolas. You may learn some handy phrases in Italian. It's all very exciting. After several months of eager anticipation, the day finally arrives. You pack your bags and off you go.

Several hours later, the plane lands. The stewardess comes in and says, "Welcome to Holland!" "Holland?" you say. "What do you mean, Holland? I signed up for Italy. I'm supposed to be in Italy. All my life I've dreamed of going to Italy." But there's been a change in the flight plan. They've landed in Holland and there you must stay. The important thing is that they haven't taken you to a horrible, disgusting, filthy place full of pestilence, famine, and disease. It's just a different place. So, you must go out and buy new guidebooks. And you must learn a whole new language. And you will meet a whole new group of people you would never have met. It's just a different place. It's slower paced than Italy, less flashy than Italy. But after you've been there for a while and you catch your breath, you look around. You begin to notice that Holland has windmills. Holland has tulips. And Holland even has Rembrandts. But everyone you know is busy coming and going from Italy, and they're all bragging about what a wonderful time they had there. And for the rest of your life you will say, " Yes, that's where I was supposed to go. That's what I had planned." And the pain of that experience will never, ever, ever, go away. The loss of that dream is a very significant loss. But if you spend your life mourning the fact that you didn't get to Italy, you may never be free to enjoy the very special, the very lovely things about Holland.

I have to say that both my trips to Holland (one virtually and the other one that was real) were both life changing. Even though we've been through so much with Kayla I wouldn't give up my "trip to Holland" for anything in the world. I love my daughter more than anything. My second "real" trip to Holland made me realize how many talented, brilliant minds are focusing on this disease. I met with many passionate researchers who are working hard to try and make a difference. I left the meeting feeling more hopeful than ever that treatments for myotonic dystrophy will be found in the next 5-10 years. Thank you to the medical and scientific community focusing on finding cures or treatments for this disease. We are grateful to you!

On another note, we are having a nice 4th of July weekend and had a fun day yesterday BBQing by our pool with good friends. We had at least 30 people here so I'm a little exhausted from cooking all day but we had a blast. I had a special treat; an old girlfriend of mine stopped by with her new baby and she brought lots of her nieces and nephews along. My friend and former college teammate, Ruthie Bolton, is incredibly talented and is not only a professional basketball player (who played for the Sacramento Monarchs) but is also a two time gold medalist in basketball. Well, besides her athletic skills, she also is a talented singer. In fact, she is one of 20 kids and most of her siblings can sing too. Signing is definitely in the Bolton genes. Well, we were blessed to have Ruthie and her family sing the most beautiful version of "Happy Birthday" to Kayla that I've ever heard. They also sang "Amazing Grace" which was also incredible and of course, made me cry. Moments like that make me realize how important it is to stay connected to friends and continue to live life as we did before the diagnosis of myotonic dystrophy in our family. THANKS RUTHIE for making Kayla's birthday so special!

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Kayla's Milestones

July 28, 2017

12 Years Old

90 lbs. 5 ft. 4 in.

Kayla had a great 6th grade year and was on the honor roll all 4 quarters (with a full time 1:1 aide who helps to keep her on track and organized). Kayla is remaining really strong and just finished her 4th year in a research study at the University of Utah and might be in an upcoming clinical trial. Kayla still loves music and books and is reading pretty well considering all of her challenges. She's just amazing!

July 28, 201611 Years Old78 lbs. 5 ft. 2 in.Kayla is starting Middle School in 6th Grade soon. She went on a trip to Hawaii this summer thanks to Make-A-Wish! Kayla has a new step-dad, Paul who she loves so much. Kayla is growing up so quickly and is definitely turning into a tween.

July 28, 201510 Years Old75 lbs. 5 ft. Kayla is starting 5th Grade soon. It has been a tremendous year in terms of her educational progress. She really struggles with math but is consistently improving in Language Arts. Kayla is really excited to have a new soon to be Step-dad in her life and is preparing to be my flower girl for our wedding in September.

July 28, 20149 Years Old70 lbs. 4 ft. 10 in.Kayla is starting 4th Grade soon. It has been a tremendous year in terms of her GI problems. She is finally potty trained. (She's going to read this some day and be so mad at me for saying that). She still has lots of struggles but Kayla's a happy little girl who loves to read and especially loves music and dancing.

July 28, 20138 Years Old67 lbs. 4 ft. 8 in.Kayla is starting 3rd Grade soon. She still struggles with some GI issues, fatique, respiratory challenges and muscle weakness but she is doing pretty well overall. She loves to read and loves her friends at school.

July 28, 20127 Years Old65 lbs. 4 ft. 6 in.Kayla is starting 2nd Grade soon. She has made incredible progress over the years, I'm so proud of her. She still struggles with GI issues but is overall a happy, sweet little girl and has made several great new friends over the past year.

July 28, 20116 Years Old58 lbs. 4 ft. 3 in.Kayla is starting First Grade soon. She is talking in full sentences now. She is using 8-10 word sentences. She is reading really well although slower than average but who cares, she's reading! What a little miracle!

July 28, 20105 Years Old50 lbs. 4 ft.Kayla is starting Kindergarten soon. She is talking so much now, it just amazes me. She is using 4-5 word sentences. Her language took off as soon as we put her into an after school day care program where she is fully integrated.

July 28, 20094 Years Old48 lbs. 3 ft. 9 in.Kayla is starting her second year of pre-school soon. She is signing over 500 signs now and her comprehension is really good. She is still struggling with expressive language but is able to say two to three words together although her speech is hard to understand so we are looking into a communication computer so that she can communicate with her peers more easily.

July 28, 20083 Years Old40 lbs. 3 ft. 4 in.Kayla is walking really well now and hasn't used her walker in over 8 months.She is signing 250 signs now which is great since her speech is delayed.

July 26, 20072 Years Old35 lbs. 38 in.Kayla took her first steps independently two days before her second birthday. What a miracle! She's still using a walker but is getting stronger everyday and we hope she will be walking on her own very soon.

March 28, 200720 Months30 lbs. 36 in.Kayla is now able to walk with the aide of a walker although she is still a bit unsteady and is dinging up all of our walls in the house. She is able to communicate with us and has a signing vocabulary of over 25 baby signs. Kayla is also starting to communicate verbally more and can say up to 10 words now, including her new favorite word, "bubbles".

November 28, 200616 months27 lbs. 9 oz. 34 1/2 in.Kayla started pulling up to standing last week and started crawling today! Kayla can do 10 signs now and can say 3 words, Dada, Mama & Up.

October 28, 200615 Months26 lbs. 8.5 oz. 33 3/4 in.Kayla started walking along our couch this week! She still isn't crawling yet but she is well on her way. Kayla has been selected as the regional 'Youth Ambassador' for Easter Seals! That's my girl!

September 28, 200614 Months25 lbs. 5 oz. 33 1/2 in.Kayla's story was highlighted on the 2006 Jerry Lewis MDA Labor Day Telethon which aired locally in the Sacramento region.

August 28, 200613 Months25 lbs. 12 oz. 33 1/4 inKayla made her first attempt at real communication earlier this month and did her first 'baby sign' for the word "milk". YEAH!

July 28, 20061 Year/10 Months Adj24 lbs. 33 in.Kayla is 1 today! We had a huge celebration of her life with friends and family from all over the country. What an amazing milestone for a girl that wasn't supposed to live to see 1. June 28, 200611 Months/9 Months Adj22 lbs. 12 oz. 32 5/8 in.Kayla took her first trip on an airplane. On that trip to Florida, she took her first sip from a straw, something that doctors said she wouldn't likely do because of her low facial tone and open mouth posture. Go Kayla!

May 28, 200610 Months/8 Months Adj21 lbs. 8 oz. 31 3/4 in.Kayla is finally sitting up without any support. She has been completely ventilator free for almost a month now! YEAH!

April 28, 20069 Months/7 Months Adj20 lbs. 6 oz. 30 3/4 in.Kayla is almost able to sit up on her own and her head control is getting better every day. She still gets tired quickly but has such determination.

March 28, 20068 Months/6 Months Adj19 lbs. 14.5 oz. 29 3/4 in.Kayla is finally off of the ventilator during all waking hours and for short 1 hour naps. She no longer needs to be tube fed. Yeah! She is starting to coo and make all sorts of new sounds. Oh, and she rolled over on her own for the first time at the beginning of March! That's my girl!

February 28, 20067 Months/5 Months Adj19 lbs. 6 oz. 28 3/4 in.Kayla is learning to hold her head upright when sitting. She is also starting to roll from side to side on her own now. Kayla is off of the ventilator for 12 hours a day. January 28, 20066 Months/ 4 Months Adj17 lbs. 5 oz. 26 3/4 in.Kayla is able to lift her head slightly when on her tummy. She also started sucking her thumb and batting at her toys over her playmate. Kayla is now off of the ventilator for 8 hours a day.

December 28, 20055 months/3 Months Adj14 lbs. 4 oz. 25 1/2 in.Kayla started smiling more and for longer periods. She is also starting to come off of the ventilator for short 30 minute spurts, 3 times a day and is handling it well. GO KAYLA! We heard her voice for the first time on the 2nd. What an amazing experience after not hearing her make any sounds for 5 months.

November 28, 20054 Months/2 Months Adj11 lbs. 7 oz. 24 in.Kayla came home on the 8th and is showing huge improvements already. She began tracking people and especially loves her mechanical birds above her bed.

October 28, 20053 Months/1 Month Adj9 lbs. 4 oz. 23 in.Kayla began breastfeeding but is still being tube fed to keep up her weight. Kayla is getting stronger and might be able to finally come home in the next month or so.

September 28, 20052 Months Old8 lbs. 2 oz. 21 in.Kayla was diagnosed with Myotonic Muscular Dystrophy. She had a tracheotomy and g-tube surgery to help support her breathing and feeding. It's the first time we have seen Kayla without tape all over her face. She is so beautiful!

August 28, 20051 Month Old6 lbs. 4 oz. 19 in.Kayla is officially 1 month old today! What a celebration especially after the doctors said she wouldn't make it this far. She has such determination and a strong will to live. KAYLA, YOU GO GIRL!

July 28, 2005Happy Birthday4 lbs. 15 oz. 18 in.Kayla was born at Sutter Memorial Hosptial in Sacramento, CA by emergency c-section at 32 weeks gestation (7 months). Kayla was unable to breathe, move or eat by mouth and is on a ventilator and has a nasal feeding tube put in. The doctors said she has 'floppy baby syndrome' but haven't said much more yet.